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1.  Idiopathic Calcinosis Cutis of the Penis 
Background: Calcinosis cutis—the deposition of insoluble calcium salts in the skin and the soft tissue—occurs in the following five settings: calciphylaxis, dystrophic, iatrogenic, idiopathic, and metastatic. Idiopathic calcinosis cutis of the penis is rare. Purpose: This paper describes a man with idiopathic calcinosis cutis of the penis, summarizes the clinical features of previously reported men with this condition, and also reviews dystrophic, iatrogenic, and metastatic penile calcinosis. Methods: A 27-year-old Pakistan man presented with concurrent, asymptomatic, individual nodules on the right mid-ventral penile shaft and left side of scrotum and two additional papules on the right side of the scrotum. Evaluation and treatment included the excision of all lesions. Reports of patients with penile calcinosis were identified using a medical search engine (PubMed Central) and referenced citations from the published papers on this subject. Results: Microscopic examination of the patient's nodules showed idiopathic and dystrophic calcinosis cutis of the penis and scrotum, respectively; the scrotal papules were fibroepithelial polyps. Including this individual, idiopathic calcinosis cutis of the penis has only been reported in 11 men. It presents as either an asymptomatic nodule (5 patients) or multiple lesions (6 patients) of less than one-year duration, on either the penile shaft (distal in 4 patients, mid in 2 patients, both in 1 patient, and site unspecified in 1 patient) or the prepuce (3 patients) of uncircumcised men less than 30 years of age. Concurrent scrotal calcification was noted in two patients. Dermal deposits of calcium are found in the dermis—often with surrounding histiocytes and multinucleated giant cells; concurrent features of dystrophic penile shaft calcification, such as calcium within syringomas or transepidermal elimination of calcium through eccrine sweat ducts, was only noted in two men. The nodules do not recur following excision. Conclusion: Idiopathic calcinosis cutis of the penis is extraordinary and has only been reported in 11 men. It presents as an asymptomatic nodule or nodules on mid- to distal penile shaft or foreskin. Concurrent scrotal calcinosis cutis was noted in two men. Microscopic examination shows calcium deposits in the dermis, usually with associated histiocytes and multinucleated giant cells; concurrent changes of dystrophic calcification were also present in two men. Excision of the penile nodules not only provides the diagnosis, but also successfully resolves the condition without recurrence.
PMCID: PMC3533325  PMID: 23277801
2.  Idiopathic Calcinosis Cutis over Elbow in a 12-Year Old Child 
Case Reports in Orthopedics  2013;2013:241891.
Calcinosis cutis is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin in various parts of the body. Four main types of calcinosis cutis have been recognized according to etiology: associated with localized or widespread tissue changes or damage (dystrophic calcification), that associated with an abnormal calcium and phosphorus metabolism (metastatic calcification), not associated with any tissue damage or demonstrable metabolic disorder (idiopathic calcification), and Iatrogenic. Very few cases of idiopathic calcinosis cutis are reported in early childhood in the literature. We report one such case of idiopathic calcinosis cutis over elbow in a 12-year-old female child. Histological examinations of the lesions resected in this case reveal calcium deposits in the dermis, surrounded by foreign body giant cells. Idiopathic calcinosis cutis is a rare phenomenon and occurs in the absence of known tissue injury or systemic metabolic defect. It is important to delineate it from other calcification disorders for further plan of management. Medical therapy in calcinosis cutis is of limited benefit in pediatric age group and poses a challenging problem of postsurgical management.
PMCID: PMC3835332  PMID: 24294531
3.  Unusual Idiopathic Calcinosis Cutis Universalis in a Child 
Case Reports in Dermatology  2009;1(1):16-22.
Calcinosis cutis is an uncommon disorder characterized by the progressive deposition of crystals of calcium phosphate (hydroxyapatite) in the skin in various areas of the body. It is classified into four types according to etiology, namely as dystrophic if calcium and phosphorus levels are normal and tissue damage is present, as idiopathic if calcium and phosphorus levels are normal and no tissue damage is present, or as metastatic if there is hypercalcemia or hyperphosphatemia. Medical and surgical treatments are options to cure calcinosis cutis. Medical therapy is not very effective. Surgical excision has shown to be beneficial, as it can provide a symptomatic relief. However, since calcinosis cutis limits are not always well defined, a recurrence of the lesions may occur. We dealt with a very rare form of calcinosis cutis in a healthy 6-year-old girl. There was no evidence of connective tissue disorder or abnormal mineral metabolism. Hence, she was diagnosed as idiopathic calcinosis cutis and, although calcifications in idiopathic cutis are most commonly localized to one area, our patient unusually exhibited widespread calcific deposits. Although the existing lesions showed slow improvement, systemic pamidronate therapy was effective in preventing the occurrence of new lesions. Surgical excision proved to be an effective and successful treatment. This report aims to raise doctors’ awareness on the presentation, etiopathogenesis, and course of the relatively rare idiopathic calcinosis cutis.
PMCID: PMC2895204  PMID: 20652108
Calcinosis cutis; Idiopathic; Child; Pamidronate; Surgery
4.  Diffuse Idiopathic Calcinosis Cutis in an Adult: A Rare Case 
The Eurasian Journal of Medicine  2014;46(2):131-134.
Idiopathic calcinosis cutis is a condition involving the deposition of calcium salts in the skin and subcutaneous tissue. The disease is a pathological condition of unknown origin and hence is idiopathic. The salt deposition is confined to areas such as the breast and vulva in females and scrotum and penis in males. Diffuse calcification with multiple complications in an adult is a rare entity. Only one such case has been reported in literature. A 59-year-old female presented to us with swelling of the right elbow, multiple calcific nodular lesions all over her fingers approximately 0.5x0.5 cm in size, and ulcers on her left great toe and right thumb with pain for the past two months. The ulcers were 2x2 cm and were observed to be healing without active discharge or signs of inflammation. The elbow was diffusely swollen and tender. Flexion deformity was present at the elbow. X-ray of hand and feet revealed calcinosis of the elbow and interphalangeal joints of the foot and hand. Blood tests revealed elevated C-reactive protein levels of 24 mg/dL, elevated Erythrocyte Sedimentation Rate (ESR) of 52 mm/hr., serum calcium of 9.7 mg/dL and a serum phosphorous of 5 mg/dL. Cultures from the foot ulcer were positive for methicillin-resistant staphylococcus aureus (MRSA). Workup for collagen vascular disease was negative. Histopathology confirmed calcinosis cutis. Treatment involved a conservative approach, including physiotherapy for the flexion deformity, antibiotics for MRSA, analgesics for pain relief and daily dressings. This case demonstrates that if a patient presents with multiple chalky nodular lesions with or without ulceration, pain and discharge involving areas of the upper limb or lower limb, diagnosis of idiopathic calcinosis cutis could be considered as a differential, despite its common confinement to the scrotum, breast, vulva and penis.
PMCID: PMC4261459  PMID: 25610312
Calcinosis cutis; idiopathic; diffuse; adult
5.  Calcinosis Cutis at the Tarsus of the Upper Eyelid 
Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin, and is often associated with rheumatoid disease. A 42-year-old woman presented for evaluation of a hard palpable mass on the left upper eyelid. After everting the eyelid, a large papillomatous mass with a broad base was identified on the superior area of the tarsus. The lesion was partially excised posteriorly under local anesthesia, and pathologists identified the mass as calcinosis cutis. The patient had no systemic or trauma history, and the serum levels of calcium and phosphorous were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for a protruding papillomatous mass of the tarsal plate, and surgical debulking could be a viable option for large protruding lesions, although more follow-up is necessary to monitor regrowth.
PMCID: PMC3223712  PMID: 22131782
Calcinosis cutis; Idiopathic; Papillomatous mass; Tarsus
6.  Milia-like idiopathic calcinosis cutis in an adult without Down's syndrome 
Milia-like idiopathic calcinosis cutis is a rare entity. Only 19 cases have been reported so far, the majority of them developed in children with Down's syndrome. The mean age of the patients is 10.3 years, with a sex ratio of nine girls to ten boys. Hands are most commonly affected.
Main observation
We report a case of a 69-year-old, otherwise healthy woman, who developed milia-like idiopathic calcinosis cutis on her forehead.
To our knowledge, we report the seventh case occurring in a patient without Down's syndrome, and the first case occurring in an elderly person.
PMCID: PMC3157765  PMID: 21886700
Down's syndrome; calcinosis cutis; milia; MICC
7.  Idiopathic Calcinosis Cutis of Nasal Dorsum 
A 23-year-old lady presented with a slowly progressing firm mass on the nasal dorsum since 8 months. Her biochemical, haematological and collagen vascular disease screening tests were normal. Radiographs of the nasal bones showed a subcutaneous calcifying lesion with no evidence of nasal bone erosion. A diagnosis of idiopathic calcinosis cutis (ICC) was made. The mass was excised and soft tissue defect was augmented with silicone prosthesis. The histopathology with the haematoxylin and eosin staining and von Kossa stain confirmed the diagnosis of calcinosis cutis. This is an unusual presentation of ICC involving the nasal dorsum requiring surgery and nasal dorsal augmentation with silicone prosthesis.
PMCID: PMC3339131  PMID: 22557858
Calcinosis cutis; idiopathic; nasal dorsum
8.  Idiopathic Calcinosis Cutis of the Vulva 
Indian Journal of Dermatology  2013;58(6):464-466.
In the present study, calcinosis cutis (CC) is defined as the deposition of amorphous calcium and phosphate salts under epidermis and it may be caused by a pre-existing event such as extravasation injury or hypercalcemic conditions. Idiopathic CC cases have no underlying disease or pre-existing cause.
A demostrative vulvar idiopathic CC case presentation and review of the related literature.
A 42-year-old multiparous female presented with vulvar nodular masses. She was keen on surgical removal of the lesions, as the masses caused dyscomfort during sexual intercourse. The lesions were removed and sent for histopathological examination. There was neither a history of trauma nor any inflammatory process in the vulvar skin prior to the development of lesions and no systemic abnormality was detected.
Results and Conclusions:
The histhopathologic evaluation of the biopsy specimen showed amorphous calcium deposits without any inflammatory infiltration in the dermis. There was no recurrence at 1 year's follow-up. This case shows that idiopathic CC may develop slowly at labio-vulvar region in a sexually active female with normal systemic or laboratory findings
PMCID: PMC3827520  PMID: 24249900
Idiopathic calcinosis cutis; vulva; subepidermal nodules
9.  Idiopathic calcinosis cutis of the penis 
Calcification of the skin occurs in four main forms namely dystrophic, metastatic, iatrogenic and idiopathic. Idiopathic calcinosis cutis of the penis is exceedingly rare as only five cases have been reported till date to the best of our knowledge. Herein, we present another case of this rare entity in a 29-year old man and discuss its probable pathogenic origin.
PMCID: PMC3481411  PMID: 23130192
Calcinosis cutis; penis; idiopathic
10.  Milia-like Idiopathic Calcinosis Cutis Occurring in a Toddler Born as a Premature Baby 
Annals of Dermatology  2011;23(4):490-492.
Milia-like idiopathic calcinosis cutis (MICC) is characterized by smooth, firm, whitish papules resembling milia. Histologically, it appears as a well-defined, round, basophilic nodule within the upper dermis. Although the etiology and treatment remain unclear, it may resolve spontaneously. Some cases have been associated with Down syndrome, and the mean age of MICC patients was 9.9 years old. Herein, we report a rare case of MICC that was not associated with Down syndrome. Noticeably, the patient, a toddler, was born as a premature baby and had an ischemic injury on the right foot at birth. However, the lesions appeared on both feet, including the non-injured left foot. Otherwise he was healthy. After a 21-month follow-up period, the lesions had almost disappeared without any treatment.
PMCID: PMC3229943  PMID: 22148017
Calcinosis cutis; Prematurity
11.  The Co-Existence of Vulvar Lichen Sclerosus, Ulcerated Calcinosis Cutis, and Dermatomyositis: Coincidence or Immunological Mechanism? 
Annals of Dermatology  2011;23(Suppl 3):S375-S379.
Calcinosis cutis is a condition characterized by the deposition of calcium salts in the skin and subcutaneous tissues, and patients suffering from it encounter various connective tissue disorders, such as dermatomyositis (DM), scleroderma, and systemic lupus erythematosus. Although calcinosis cutis is frequently accompanied by juvenile dermatomyositis, rare cases have been reported in adult patients with DM. On the other hand, lichen sclerosus (LS) is a chronic inflammatory disease of the skin and mucosal surfaces. In the present report, we present a rare case of a 71-year-old patient with DM accompanied by ulcerated calcinosis cutis and vulvar LS.
PMCID: PMC3276801  PMID: 22346282
Calcinosis cutis; Dermatomyositis; Lichen sclerosus
12.  Calcinosis Cutis: Report of 4 Cases 
Journal of Laboratory Physicians  2011;3(2):125-126.
Calcinosis cutis is a condition of accumulation of calcium salts within the dermis. We are presenting four cases of calcinosis cutis, with different clinical presentations, occurring in healthy individuals, with normal serum calcium and phosphorus levels. Histologically, all cases showed similar morphology, the lesions were composed of large and small deposits of calcium. Foreign-body giant cell reaction was seen in one case. Another case had intact and ruptured epidermal cysts and calcification within the cyst.
PMCID: PMC3249711  PMID: 22219570
Calcinosis cutis; dystrophic calcinosis; subepidermal calcified nodule; tumoral calcinosis
13.  Dermatomyositis and Metastatic Lung Adenocarcinoma First Presenting as Calcinosis Cutis 
Calcinosis cutis is a rare complication of adult dermatomyositis. The authors report a case of dystrophic calcinosis cutis that ultimately led to the diagnosis of dermatomyositis and metastatic lung adenocarcinoma.
PMCID: PMC3277092  PMID: 22328959
14.  Calcinosis Cutis Confined to the Dermis after Intravenous Administration of a Calcium Preparation: A Case Report and Review of the Japanese Literature 
Case Reports in Dermatology  2014;6(1):85-90.
A 61-year-old female received intravenous injection of calcium chloride after common iliac artery bypass surgery. A red flare appeared at the site of the intravenous infusion on the left forearm and gradually progressed to induration. Seven weeks later, she was referred to the Department of Dermatology for management. Physical examination showed an indurated plaque measuring 13 × 65 mm in size, with linearly distributed ulcers covered by yellowish-white substance, surrounded by reddish skin. Laboratory tests showed no significant abnormalities including serum calcium, phosphate and thyroid hormones. Cultures were negative for microorganisms. Histopathological examination showed calcium deposition confined to the dermis. The lesion healed spontaneously within 2 months with scar formation. A review of the Japanese literature showed confinement of calcium deposits to the dermis in most of the reported cases. We speculate that the pathomechanism of dermal calcinosis includes needle-induced tissue injury with capillary destruction, leading to release of excess calcium between collagen fibers, and its binding to phosphate in the dermis and deposition as calcium phosphate crystals.
PMCID: PMC3995393  PMID: 24761140
Iatrogenic calcinosis; Calcium chloride
16.  Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates 
Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions.
To evaluate the efficacy of bisphosphonates for the management of tumoral calcinosis on optimized medical treatment.
Settings and Design:
The study was done in the endocrine department of a tertiary care hospital in South India. We prospectively studied two patients with recurrent tumoral calcinosis who had failed therapy with phosphate lowering measures.
Materials and Methods:
After informed consent, we treated both patients with standard age adjusted doses of bisphosphonates for 18 months. The response was assessed by X ray and whole body 99mTc-methylene diphosphonate bone scan at the beginning of therapy and at the end of 1 year. We also estimated serum phosphate levels and urinary phosphate to document serial changes.
Two patients (aged 19 and 5 years) with recurrent idiopathic hyperphosphatemic tumoral calcinosis, following surgery were studied. Both patients had failed therapy with conventional medical management − low phosphate diet and phosphate binders. They had restriction of joint mobility. Both were given standard doses of oral alendronate and parenteral pamidronate respectively for more than a year, along with phosphate lowering measures. At the end of 1 year, one of the patients had more than 95% and 90% reduction in the size of the lesions in right and left shoulder joints respectively with total improvement in range of motion. In contrast, the other patient (5-year-old) had shown no improvement, despite continuing to maintain normophosphatemia following treatment.
Bisphosphonate therapy in tumoral calcinosis is associated with lesion resolution and may be used as a viable alternative to surgery, especially in cases with multicentric recurrence or treatment failure to other drugs.
PMCID: PMC4138909  PMID: 25143910
Bisphosphonates; fibroblast growth factor 23; hyperphosphatemia; tumoral calcinosis
17.  Scrotal calcinosis due to resorption of cyst walls: a case report 
Scrotal calcinosis is a rare benign entity defined as the presence of multiple calcified nodules within the scrotal skin. There are controversies about the origin of this entity. In fact, it is still debatable whether scrotal calcinosis is an idiopathic growth or dystrophic calcification of dartoic muscles. It is also unclear whether scrotal calcinosis originates from inflammation of epidermal cysts affected by mild to moderate inflammation of mononuclear cells, from foreign body granuloma formation followed by resorption of cyst walls or from eccrine epithelial cysts.
Case presentation
We report a 41-year-old male Turkish patient presenting with a 10-year history of scrotal tumours increasing slowly in size and number. Histopathologically, there was no epithelial lining around the calcified nodules, but there was fibrosis adjacent to atrophic stratified squamous epithelium.
Results of histopathological examinations suggested that scrotal calcinosis might have been due to resorption of cyst walls. Surgery remains the key for this problem. In cases of non-massive scrotal calcinosis, like the case presented here, excision of the nodules from the affected part of the scrotal wall and repairing the defect with horizontal stitches offer good cosmetic results without relapse.
PMCID: PMC2629479  PMID: 19063719
18.  CASE REPORT Idiopathic Tumoral Calcinosis of the Nontraumatic Thumb 
Eplasty  2012;12:e29.
We report a case of idiopathic tumoral calcinosis localized to the thumb without prior trauma or surgery. Initial physical examination and imaging studies were suggestive of more common etiologies of thumb pain. After treatment failure, a biopsy specimen revealed calcium phosphate salt deposition in the soft tissue around the metacarpophalangeal joint, which was treated by excision of the tumoral calcinosis masses. Tumoral calcinosis can occur idiopathically in the hand and digits and should be considered when other more common pathologies of thumb pain have been ruled out.
PMCID: PMC3379739  PMID: 22724044
19.  Idiopathic Tumoral Calcinosis in Hand: A Case Report 
Eplasty  2014;14:e28.
Objective: Tumoral calcinosis is an uncommon lesion, composed of ectopic calcified tissue, most commonly seen in the large joints of the hips, knees, shoulders, and elbows. The involvement of the hand in a healthy patient is extremely rare, and therefore this condition can cause diagnostic confusion. The purpose of this report is to describe one case of idiopathic tumoral calcinosis that occurred in the left hand of a 35-year-old healthy female patient. Methods: The patient presented with 2-day history of acutely swelling and painful left hand middle finger metacarpal phalangeal joint without any precipitants. Results: All biochemical, radiological, and histopathological evidence suggested idiopathic tumoral calcinosis of the hand. Conclusions: In this case, surgery provided the patient with instant symptomatic relief and full functional recovery of that joint.
PMCID: PMC4114239  PMID: 25165497
hand; tumoral calcinosis; surgery; idiopathic; calciphylaxis
20.  A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis 
Various inactivating mutations in guanine nucleotide−binding protein, alpha−stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression.
We present a 2−year−old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia.
Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.
We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.
Conflict of interest:None declared.
PMCID: PMC3005748  PMID: 21274302
Pseudohypoparathyroidism; osteoma cutis; congenital hypothyroidism
21.  Leukemia cutis: an unusual rash in a child 
PMCID: PMC2817324  PMID: 19901041
22.  Amyloidosis cutis dyschromica in two female siblings: cases report 
BMC Dermatology  2011;11:4.
Cutaneous amyloidosis has been classified into primary cutaneous amyloidosis (PCA, OMIM #105250), secondary cutaneous amyloidosis and systemic cutaneous amyloidosis. PCA is the deposition of amyloid in previously apparent normal skin without systemic involvement. Amyloidosis cutis dyschromica (ACD) is a rare distinct type of PCA. Here, the unique clinical and histological findings of two Chinese female siblings with ACD were described.
Cases presentations
Patient 1 was a 34-year-old female, presented with mildly pruritic, diffuse mottled hyperpigmentation and hypopigmentation. The lesions involved all over the body since she was 10 years old. There were a few itchy blisters appearing on her arms, lower legs and truck, especially on the sun-exposed areas in summer. Some hypopigmented macules presented with slight atrophy. Patient 2 was 39-year-old, the elder sister of patient 1. She had similar skin lesions since the same age as the former. The atrophy and blisters on the skin of the patient with amyloidosis cutis dyschromica have not been described in previous literature. Histological examinations of the skin biopsies taken from both patients revealed amyloid deposits in the whole papillary dermis. Depending on the histological assessment, the two cases were diagnosed as amyloidosis cutis dyschromica.
The two cases suggest that the atrophy and blisters may be the uncommon manifestations of amyloidosis cutis dyschromica. It alerts clinicians to consider the possibility of ACD when meeting patients with cutaneous dyschromia. Skin biopsy is essential and family consultation of genetic investigation is very important in such cases.
PMCID: PMC3048549  PMID: 21320354
23.  A case of leukemia cutis. 
Journal of Korean Medical Science  1998;13(6):689-692.
We report a case of leukemia cutis with atypical skin manifestations, presented with generalized various sized dark brownish to erythematous patches with plaques on the whole body of a 42-year-old man. Skin lesions developed 6 months ago and had no signs of itching or tenderness. He complained of sustaining fevers with abdominal discomfort. Laboratory findings showed elevation of leukocyte count and peripheral blood smear revealed 86% of lymphocyte. Histologic examination showed diffuse infiltration of abnormal cells that appeared to be leukemic in nature.
PMCID: PMC3054554  PMID: 9886183
Indian Journal of Dermatology  2010;55(4):337-341.
Cutaneous leiomyomas are benign smooth muscle tumors that comprise three distinct types such as piloleimyoma, angioleiomyoma, and genital leiomyoma.
The objective of this study was to report a series of cases seen in last 8 years in a tertiary care hospital in north India and to discuss their clinicopathologic findings.
Material and Methods:
Paraffin-embedded blocks of cases reported as cutaneous leiomyoma from 1999 to 2007 were retrieved from the Institute of Pathology, New Delhi, and their clinical parameters were noted. Their histopathological features were reviewed on hematoxylin-eosin stained slides. Immunohistochemistry was performed where necessary.
Twenty-seven cases of piloleiomyoma, three cases of angioleiomyoma, five breast leiomyomas, and two scrotal leiomyomas were seen in patients ranging from 21 to 65 years of age, with an average of 38.2 years at presentation. There was a male predominance with 26 males and 11 females (M:F = 2.2:1). Solitary lesions (n = 21) were more common than multiple ( n = 16). The trunk and upper limbs were involved most commonly, comprising 23 of 37 (62.2%) cases. This was followed by lower limb, face, breast, and scrotum.
Cutaneous leiomyomas are rare lesions and form an important clinical differential diagnosis of painful papulonodules. These must be biopsied in order to differentiate them from other spindle cell lesions.
PMCID: PMC3051292  PMID: 21430885
Piloleiomyoma; cutaneous leiomyoma; angioleiomyoma; genital leiomyoma
25.  Structural Effects of Fibulin 5 Missense Mutations Associated with Age-Related Macular Degeneration and Cutis Laxa 
Mutations in fibulin 5 are associated with AMD and are known to cause autosomal recessive cutis laxa. This article describes the structural changes to fibulin 5 protein associated with these mutations, to help determine the pathogenicity of the AMD mutations.
AMD has a complex etiology with environmental and genetic risk factors. Ten fibulin 5 sequence variants have been associated with AMD and two other fibulin 5 mutations cause autosomal-recessive cutis laxa. Fibulin 5 is a 52-kDa calcium-binding epidermal growth factor (cbEGF)–rich extracellular matrix protein that is essential for the formation of elastic tissues. Biophysical techniques were used to detect structural changes in the fibulin 5 mutants and to determine whether changes are predictive of pathogenicity.
Native PAGE, nonreduced SDS-PAGE, size-exclusion column multiangle laser light scattering, sedimentation velocity, and circular dichroism (CD) were used to investigate the mobility, hydrodynamic radii, folding, and oligomeric states of the fibulin 5 mutants in the absence and presence of Ca2+.
CD showed that all mutants are folded, although perturbations to secondary structure contents were detected. Both cutis laxa mutants increased dimerization. Most other mutants slightly increased self-association in the absence of Ca2+ but this was also demonstrated by G202R, a polymorphism detected in a control individual. The AMD-associated mutant G412E showed lower-than-expected mobility during native-PAGE, the largest hydrodynamic radius for the monomer form and the highest levels of aggregation in both the absence and presence of Ca2+.
The results identified structural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), suggesting that this may also be pathogenic. Although the other AMD-associated mutants showed no gross structural differences, they cannot be excluded as pathogenic by differences outside the scope of this study—for example, disruption of heterointeractions.
PMCID: PMC2868478  PMID: 20007835

Results 1-25 (8130)