This neurocutaneous disorder is characterized by a craniofacial nevus sebaceus that falls along embryonic cutaneous lines and tends to be associated with neurological, ocular, skeletal, and vascular abnormalities. [3] This rare disorder represents a mosaic [emedicine.medscape.com]

[…] fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism [csbg.cnb.csic.es]

Proconvertin deficiency, congenital Procrastination Proctitis Prog Progeria short stature pigmented nevi Progeria variant syndrome Ruvalcaba type Progeria Progeroid syndrome De Barsy type Progeroid syndrome Petty type Progeroid syndrome, Penttinen type Prognathism [sosu.us]

Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo [csbg.cnb.csic.es]

hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome Phakomatosis pigmentokeratotica [csbg.cnb.csic.es]

PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment. J Eur Acad Dermatol Venereol 21: 402. [link.springer.com]

Clinical Features It is characterized by the presence of: A sebaceous nevus in a linear pattern A speckled lentiginous nevus in a checkerboard pattern Other systemic anomalies, most commonly hemiatrophy, dysesthesia, and hyperhidrosis affecting a segment [news-medical.net]

We emphasize that in our patients, the onset of hemiatrophy and hyperhidrosis with dysesthesia was slow and was overlooked during the initial examination. [doi.org]

Hemiatrophy seems to be a common finding in all cases; hyperpathia; dysesthesia, and hyperhidrosis, as well as other neurologic defects, may be present. Conclusions: The findings in these patients allowed us to better delineate this syndrome. [moh-it.pure.elsevier.com]

Symptoms - Phacomatosis pigmentokeratotica The list of signs and symptoms mentioned in various sources for Phacomatosis pigmentokeratotica includes the 13 symptoms listed below: * Hemiatrophy * Hyperpathia * Dysesthesia * Increased sweating * Neurological [checkorphan.org]

attacks, floppy episodes and partial complex seizures which can occur several times daily. [ncbi.nlm.nih.gov]

Thrombocytopathy Thrombocytopenia cerebellar hypoplasia short stature Thrombocytopenia chromosome breakage Thrombocytopenia multiple congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis [sosu.us]

Keywords Spinal Muscular Atrophy Neurological Abnormality Right Bundle Branch Block Melanocytic Nevus Leopard Syndrome These keywords were added by machine and not by the authors. [link.springer.com]