Albright Hereditary Osteodystrophy

Abstract: Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss‐of‐function mutations in the GNAS gene. Its typical clinical features encompass obesity, a round face and a short neck, osteoma of the skin, endocrinological abnormalities, and psychomotoric retardation. Here we present a 10‐month‐old Tunisian boy with a classical course of this rare disease.     

Osteoma Cutis as a Presenting Sign of Pseudohypoparathyroidism

Four unrelated children with osteoma cutis and Albright hereditary osteodystrophy (pseudohypoparathyroidism and pseudopseudohypoparathyroidism) are described. All four patients were normocalcemic when they were first seen with cutaneous ossification. A diagnosis of Albright hereditary osteodystrophy was established on the basis of associated somatic features, radiographic abnormalities, and family history. Progression to pseudohypoparathyroidism was documented in two children who developed hypocalcemia at 2 and 3 years of age, respectively. Early recognition of the skin manifestations of this syndrome and careful follow-up are important to prevent the deleterious effects of hypocalcemia. Osteoma cutis is a common sign of Albright hereditary osteodystrophy in infancy and childhood, and its significance should not be overlooked, even in the normocalcemic patient.     

Perforating Calcinosis Cutis Presenting as Milia

Two children with unusual milia-Iike lesions on the pubic and groin area were found to have idiopathic perforating calcinosis cutis. The inconspicuous clinical appearance may escape detection unless a biopsy is performed.     

原发性皮肤骨瘤1例

患者男,13岁.出生时发现腹部、下肢皮肤多发性大小不等的扁平结节,质硬,无明显自觉症状.左小腿皮损组织病理示:真皮层及真皮下层可见板层状不规则排列的分化成熟的骨组织,部分骨小梁周围可见成骨细胞.诊断:皮肤骨瘤.     

Leukemia Cutis Presenting with Fingertip Hypertrophy

Background: Patients with leukemia often manifest cutaneous findings, which include nonspecific lesions and specific leukemic infiltrates termed leukemia cutis. Objective: A case of leukemia cutis involving distal finger pads is reported and literature describing hand involvement of specific leukemic infiltrates is reviewed. Methods and Results: An 80-year-old woman with a 10-year history of chronic lymphocytic leukemia developed painful symmetric tumors of her distal finger pads. Histopathological examination of the biopsy specimen revealed infiltration by neoplastic lymphocytes. Only a few cases of leukemia cutis involving the hands have been reported in the literature, none with this particular presentation. The clinical and histopathologic features of leukemia cutis are reviewed. Conclusion: This case emphasizes the importance of obtaining a biopsy specimen for histopathological examination of any suspicious skin lesion in a patient with leukemia.     

Congenital Platelike Osteoma Cutis: Case Report and Review of the Literature

Abstract: An 18-year-old girl had a progressive enlarging plate of subcutaneous bone in the scalp since birth. Histologic examination of the leslon showed typical osteoma cutis. There was no history of any skin disease prior to development of the osteoma. Frequently congenital and usually located on the scalp, platelike osteoma is a rare variant of osteoma cutis.     

Tuberculosis Verrucosa Cutis Presenting as Diffuse Plantar Keratoderma: An Unusual Sight

Tuberculosis verrucosa cutis (TVC) is a common cutaneous form of paucibacillary tuberculosis in an individual with moderate to high degree of immunity to Mycobacterium tuberculosis infection. Clinical appearance of TVC is mostly very typical with well-defined warty plaques presenting mostly on hands, knees, ankle, and buttocks; however several atypical morphology of the lesions have also been described. We hereby report a case of TVC, masquerading as asymptomatic diffuse keratoderma of left foot for nine months, in an otherwise healthy individual, obstructing easy diagnosis of cutaneous tuberculosis. Diagnosis was confirmed by histopathology.     

Aplasia Cutis Congenita Associated with Fetus Papyraceus

Aplasia cutis congenita (ACC), or congenital absence of skin, is a heterogeneous condition that may be due to varied mechanisms. ACC has rarely been reported in association with fetus papyraceus, representing a peculiar phenotype of ACC. We present six new cases of neonates born with symmetric ACC associated with intrauterine fetal demise of co‐twins during the late first or early second trimester.     

Leukemia Cutis and Facial Nerve Palsy as Presenting Symptoms of Acute Lymphoblastic Leukemia

Leukemia cutis and facial nerve palsy are rare presenting symptoms of leukemia. This report describes a case of acute T‐cell lymphoblastic leukemia (ALL) presenting with only these two symptoms, a presentation of ALL that, to our knowledge, has not been previously described. It serves to alert physicians to look for underlying malignancy in the setting of cutaneous findings associated with facial nerve palsy.     

Hereditary Vitamin D–Resistant Rickets Presenting as Alopecia

Hereditary vitamin D–resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147–2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.     

Generalized Cutis Laxa Associated with Heavy Chain Deposition Disease

BACKGROUND: Cutis laxa is a heterogeneous group of inherited and acquired disorders characterized clinically by loose skin and histologically by altered elastic tissue. Heavy chain deposition disease is a very rare monoclonal immunoglobulin disorder, distinct from multiple myeloma, in which there is production and deposition of defective immunoglobulin heavy chains without light chain deposition. OBJECTIVE: We describe a case of acquired cutis laxa associated with heavy chain deposition disease. RESULTS: A 50-year-old male presented with acute renal failure, IgG4 heavy chain deposition in the kidneys, and no evidence of multiple myeloma. Four years later, he developed generalized acquired cutis laxa, emphysema, and a peripheral polyneuropathy. On pathology, there was destruction of elastic fibers within the dermis. CONCLUSION: This case describes a previously unreported association between acquired cutis laxa and heavy chain deposition disease.     

Cutis Marmorata Telangiectatica Congenita Associated with a Double Aortic Arch

Abstract: We report a patient with cutis marmorata telangiectatica with the hitherto unreported anomaly of a double aortic arch. The presence of two major vascular anomalies in this patient may be secondary to a developmental defect of the mesoderm during embryogenesis.